Abstract
Extraosseous Gaucher cell deposits are a rare complication of Gaucher disease that can mimic malignancy. We describe a case of Gaucher cell deposition in the subcutaneous soft tissues overlying the lower thoracic spine in an 18-year-old woman with known type III Gaucher disease. This case is unique in the literature because this subcutaneous Gaucher mass was not associated with extension from underlying bone involvement or clear lymph node origin. It demonstrated no discernible continuity with the adjacent thoracic spinous processes, the cortices of which appeared intact. Although patients with Gaucher disease are at increased risk of malignancy, Gaucher cell deposition should remain a differential consideration for soft tissue masses with or without adjacent bone involvement in patients with known Gaucher disease.
References
Barone R, Pavone V, Nigro F, Chabas A, Fiumara A. Extraordinary bone involvement in a Gaucher disease type I patient. Br J Haematol. 2000;108:838–41.
Itzchaki M, Lebel E, Dweck A, et al. Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acto Orthop Scand. 2004;75:641–53.
Poll LW, Koch JA, Omar Dahi S. Type I Gaucher disease: extraosseous extension of skeletal disease. Skeletal Radiol. 2000;29:15–21.
Poll LW, Koch JA, Omar Dahi S. Extraosseous manifestation of Gaucher’s disease type I: MR and histological appearance. Eur Radiol. 2000;10:1660–3.
Hermann G, Shapiro R, Abdelwahab FI, Klein M, Pastores G, Grabowski G. Extraosseous extension of Gaucher cell deposits mimicking malignancy. Skeletal Radiol. 1994;23:253–6.
Shiran A, Brenner B, Laor A, Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer. 1993;72:219–24.
Lim AKP, Vellodi A, McHugh K. Mesenteric mass in a young girl—an unusual site for Gaucher’s disease. Pediatr Radiol. 2002;32:674–6.
Kaloterakis A, Cholongitas E, Pantelis E, Papadimitriou C. Durakis SP, Filiotou A. Type I Gaucher disease with severe skeletal destruction, extraosseous extension, and monoclonal gammopathy. Am J Hematol. 2004;77:377–80.
Hill SC, Damaska BM, Tsokos M, Kreps C, Brady RO, Barton NW. Radiographic findings in type 3b Gaucher disease. Pediatr Radiol. 1996;26:852–60.
Kransdorf MJ, Murphey MD. Imaging of Soft Tissue Tumors. 2nd ed. Philadelphia: Lippincott Williams & Williams; 2006.
Kubo T1, Shimose S, Fujimori J, Shimizu R, Ochi M. Extraosseous extension caused by epidural hematoma in Gaucher disease mimicking malignant bone tumor. J Inherited Metabolic Dis Rep. Epub 2013 Dec 21
Acknowledgments
Conflict of interest
The authors declare that they have no conflicts of interest to disclose.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Meyer, B.J., Mills, A.M. & Gaskin, C.M. Extraosseous Gaucher cell deposition without adjacent bone involvement. Skeletal Radiol 43, 1495–1498 (2014). https://doi.org/10.1007/s00256-014-1927-1
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00256-014-1927-1